Liver transplantation (LT) for children with urea cycle disorders (UCDs) is capable of correcting the enzymatic defect and preventing progressive neurologic injury. We describe the characteristics and outcomes of pediatric LT recipients with UCDs. We identified all pediatric (<18 years) LT candidates with UCDs in the United Network for Organ Sharing (UNOS) database (February 2002 to September 2020). Multivariable Cox and logistic regression were used to determine risk factors for graft loss and cognitive delay, respectively. Of 424 patients, 1.9% (8/424) experienced waitlist mortality and 95.0% underwent LT (403/424). The most frequently encountered UCDs in our cohort were ornithine transcarbamylase deficiency (46.2%), citrullinemia (20.3%), and argininosuccinic aciduria (ASA; 12.9%). The 1-, 3-, and 5-year graft survival rates were 90.4%, 86.3%, and 85.2%, respectively. Multivariable analysis showed a decreased risk of graft loss with increasing weight at LT (adjusted hazard ratio [aHR], 0.96; 95% confidence interval [CI], 0.94-0.99; P = 0.02), male sex (aHR, 0.49; 95% CI, 0.28-0.85; P = 0.01), and ASA diagnosis (aHR, 0.29; 95% CI, 0.09-0.98; P = 0.047), when adjusting for location (intensive care/hospital/home) and graft type (both P ≥ 0.65). In multivariable logistic regression, waitlist time (adjusted odds ratio [aOR], 1.10; 95% CI, 1.02-1.17; P = 0.009) and male sex (aOR, 1.71; 95% CI, 1.02-2.88; P = 0.04) were associated with increased odds of long-term cognitive delay. Waitlist duration is associated with a long-term risk of cognitive delay. Given excellent long-term outcomes, early LT evaluation should be considered in all children with UCDs to prevent progressive neurologic injury and optimize cognitive outcomes.

中文翻译：

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尿素循环障碍患儿的肝移植：最小化等待时间的重要性

尿素循环障碍 (UCD) 患儿的肝移植 (LT) 能够纠正酶缺陷并预防进行性神经损伤。我们描述了患有 UCD 的儿科 LT 接受者的特征和结果。我们在器官共享联合网络 (UNOS) 数据库（2002 年 2 月至 2020 年 9 月）中确定了所有具有 UCD 的儿科（<18 岁）LT 候选人。多变量 Cox 和逻辑回归分别用于确定移植物丢失和认知延迟的危险因素。在 424 名患者中，1.9% (8/424) 经历了候补死亡，95.0% 接受了 LT (403/424)。我们队列中最常遇到的 UCD 是鸟氨酸转氨甲酰酶缺乏症 (46.2%)、瓜氨酸血症 (20.3%) 和精氨基琥珀酸尿症 (ASA；12.9%)。移植物 1 年、3 年和 5 年存活率为 90.4%，86。分别为 3% 和 85.2%。多变量分析显示移植物丢失的风险随着 LT 体重的增加而降低（调整后的风险比 [aHR]，0.96；95% 置信区间 [CI]，0.94-0.99；P  = 0.02）、男性（aHR，0.49；95% CI，0.28-0.85；P  = 0.01）和 ASA 诊断（aHR，0.29；95% CI，0.09-0.98；P  = 0.047），调整位置时（重症监护/医院/家庭）和移植物类型（均P  ≥ 0.65）。在多变量逻辑回归中，候补时间（调整后的比值比 [aOR]，1.10；95% CI，1.02-1.17；P  = 0.009）和男性（aOR，1.71；95% CI，1.02-2.88；P  = 0.04）与长期认知延迟的几率增加有关。候补名单持续时间与认知延迟的长期风险相关。鉴于出色的长期结果，应考虑对所有 UCD 儿童进行早期 LT 评估，以防止进行性神经损伤并优化认知结果。